Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large-scale mitochondrial DNA deletion

Clin Genet. 2002 Jun;61(6):465-7. doi: 10.1034/j.1399-0004.2002.610612.x.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Child
  • DNA Mutational Analysis
  • DNA, Mitochondrial / genetics*
  • Endocrine System Diseases / genetics
  • Humans
  • Kidney Diseases / genetics
  • Kidney Tubules / abnormalities
  • Male
  • Mitochondrial Diseases / diagnosis
  • Mitochondrial Diseases / genetics*
  • Mitochondrial Encephalomyopathies / genetics
  • Sequence Deletion*

Substances

  • DNA, Mitochondrial